Literature DB >> 22336888

Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI.

Seiji Saito1, Kazuki Ohno, Masakazu Sekijima, Toshihiro Suzuki, Hitoshi Sakuraba.   

Abstract

Mucopolysaccharidosis type VI (MPS VI) is a genetic disorder caused by a deficiency of arylsulfatase B (ARSB). In our previous study, we investigated the structural changes in ARSB caused by amino acid substitutions associated with MPS VI, and revealed that such structural changes in ARSB were correlated with the clinical phenotypes. To the best of our knowledge, there is no database containing the structures of mutant ARSBs. Here, we built a database of clinical phenotypes, genotypes and structures of mutant ARSBs (http://mps6-database.org). This database can be accessed via the Internet, and is user friendly being equipped with powerful computational tools. This database will be useful for a better understanding of MPS VI.

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Year:  2012        PMID: 22336888     DOI: 10.1038/jhg.2012.6

Source DB:  PubMed          Journal:  J Hum Genet        ISSN: 1434-5161            Impact factor:   3.172


  5 in total

1.  The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.

Authors:  Nouriya Abbas Al-Sannaa; Hind Yousif Al-Abdulwahed; Sami Ibrahim Al-Majed; Issam Hassan Bouholaigah
Journal:  J Community Genet       Date:  2017-09-15

2.  Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

Authors:  Marion M Brands; Marianne Hoogeveen-Westerveld; Marian A Kroos; Willemieke Nobel; George J Ruijter; Lale Özkan; Iris Plug; Daniel Grinberg; Lluïsa Vilageliu; Dicky J Halley; Ans T van der Ploeg; Arnold J Reuser
Journal:  Orphanet J Rare Dis       Date:  2013-04-04       Impact factor: 4.123

Review 3.  Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases.

Authors:  Joanna Jakóbkiewicz-Banecka; Magdalena Gabig-Cimińska; Zyta Banecka-Majkutewicz; Bogdan Banecki; Alicja Węgrzyn; Grzegorz Węgrzyn
Journal:  Metab Brain Dis       Date:  2013-12-05       Impact factor: 3.584

4.  Mutations in ARSB in MPS VI patients in India.

Authors:  Juby Mathew; Sujatha M Jagadeesh; Meenakshi Bhat; S Udhaya Kumar; Saravanamuthu Thiyagarajan; Sudha Srinivasan
Journal:  Mol Genet Metab Rep       Date:  2015-07-17

5.  Mucopolysaccharidosis VI in cats - clarification regarding genetic testing.

Authors:  Leslie A Lyons; Robert A Grahn; Francesca Genova; Michela Beccaglia; John J Hopwood; Maria Longeri
Journal:  BMC Vet Res       Date:  2016-07-02       Impact factor: 2.741

  5 in total

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